adisease

Showing entry for Generalized Myotonia of Thomsen

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD018135
Disease Name	Generalized Myotonia of Thomsen
Disease CUI Id	C2936781
MeSH Codes	C16 C05 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:7
Disease Ontology Class Name	disease of anatomical entity
Disorder Network	disorder-protein-compound-food associations

The disease-related target proteins

Proteins

Uniport Id	BXGT Id	Protein Name	Gene	Status	Protein Class
Uniport Id	BXGT Id	Protein name	Gene	Status	Protein class
P11166	BXGT007661	Solute carrier family 2, facilitated glucose transporter member 1	6513	reviewed	Transporter
P13569	BXGT007923	Cystic fibrosis transmembrane conductance regulator	1080	reviewed	Ion channel
P15559	BXGT008139	NAD(P)H dehydrogenase [quinone] 1	1728	reviewed
P35499	BXGT009839	Sodium channel protein type 4 subunit alpha	6329	reviewed	Ion channel
Q05315	BXGT012811	Galectin-10	1178	reviewed	Signaling
Q09013	BXGT013023	Myotonin-protein kinase	1760	reviewed	Kinase
Q16236	BXGT013624	Nuclear factor erythroid 2-related factor 2	4780	reviewed	Enzyme
O14793	BXGT023280	Growth/differentiation factor 8	2660	reviewed	Signaling
P35523	BXGT023831	Chloride channel protein 1	1180	reviewed	Ion channel

The disease-related compounds

Compounds

BXGC Id	Compound Name	Structure	Molecular Weight	Number of targets^{?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease}

The disease-related foods

Foods

BXGF Id	Food Name	Scientific Name	Food Group	Number of compounds in food^{?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease}